rs1555386022, TRIP11

N. diseases: 38
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Pyle metaphyseal dysplasia
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
5 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Rhizo-meso-acromelic limb shortening
CUI: C2673654
Disease: Rhizo-meso-acromelic limb shortening
2 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Rhizomelia
CUI: C1866730
Disease: Rhizomelia
6 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Short fetal femur length
CUI: C0743924
Disease: Short fetal femur length
2 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
7 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
16 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Yellow-brown discoloration of the teeth
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
2 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0